April’s Fight Against Emery Dreifuss MD

My daughter April is a 32 year old single disabled Mom raising her eight year old Ainsleah. April has been fighting a terrible disease called Emery Dreifuss Muscular Dystrophy and Rigid Spine Disease. We are not only trying to help April, but also want to raise awareness about this very rare disease.



A little background on Emery Dreifuss Muscular Dystrophy:

Emery Dreifuss Muscular Dystrophy is an extremely rare Neuromuscular Disease affecting an estimated one (1) in every hundred thousand (100,000) people. A slow progressive disease characterized by muscle wasting and weakness. It affects the muscles of the face, neck, back, arms, spine, legs and heart. Usually starting with early development of contractures (stiffness) in the elbows, Achilles tendons, upper back and neck muscles. The feature that makes it different from other types of Muscular Dystrophies is its effect on the muscles that control the heart rate and rhythm which can lead to irregular heart beats (slow heartbeat or skipping beats), fainting, stroke, heart disease and even Sudden Death Syndrome. Pacemakers/Defibrillator are used to help with this and often heart transplants later in life.

April was diagnosed with EDMD at the age of 2. She has been followed by Children’s Hospital of Philadelphia since her diagnosis.  When she was a young child, she walked on her toes due to the contractures in her ankles. Heel cord lengthening surgery was done to correct this. The surgery allowed her to walk normal. She eventually developed more contracture’s in her elbows making it impossible to straighten her arms which has progressively gotten worse as she's grew older. This can make simple tasks like brushing your hair, brushing your teeth and putting on clothing over her head.

As a teenager April’s disease became very difficult to handle. All her muscles in her back were giving her such excruciating pain that she could not finish high school with her classmates and friends. She was forced to stay home for the majority of her senior year. April worked hard to make up the work in order to graduate. Thankfully she was able to walk the field to receive her high school diploma. 



Because EDMD affects your heart, April had two heart surgeries at 17 and 19 years old to place an ICD (Internal Cardiac Defibrillator) to protect her heart because it can stop beating at any time. 

As April became an adult her body went through many changes. Her muscles became weaker throughout her entire body, while losing muscle and fat tissue making simple tasks much more difficult to do. She lost her ability to bend over and get back up without help. She can no longer get up a flight of steps. In this last year she’s been falling a lot, her legs just give out with no warning causing fractures, stitches, concussions, and more chronic pain. Recently, April had a special type of MRI of her full spine. The results were overwhelming to learn she had two types of scoliosis called Dextrose Scoliosis and Levoscoliosis. Each different curvatures of the spine and both cause different medical problems. Levoscoliosis being a little more serious because your ribcage may press against you heart and lungs. That could result in breathing problems and fatigue. Multiple disk fusions were found increasing limited mobility in her neck and back. In addition, the MRI showed Facet disease (degeneration of the Facet joints in the spine) and her muscles surrounding her spine have turned into calcium. All of this causing excruciating pain.                                                          
My daughter April has been a great warrior  trying to fight this disease from keeping her down.  Her outlook on life is positive and she wants to be there for her daughter Ainsleah as long as possible.



April is scheduled to have heart surgery, On June 4th, 2021. They will be placing her third pacemaker and defibrillator in her chest.  She has many needs to help her achieve a better quality of life.




April’s Neurologist, Orthopedic doctor, Pain Management Dr., physical therapist and occupational therapist have recommended treatments and devices to enable her to have more mobility and stay Independent but they are not covered by health insurance.

As her disease progresses she will continue to need equipment and several therapies to help her through her daily life.

The following  treatments and expenses are not covered by medical insurance.

A donation of $75 would pay for her to have massage therapy (1-visit) could help loosen her back muscles.

A donation of  $30 would cover the cost of gas for the car and parking expense at the garage for her doctor visits to University of Pennsylvania Hospital each month.

A donation of $150.00 (1-visit) for water therapy to give her muscle strengthening exercises and to help manage pain.

April has numerous outstanding medical expenses.

She can not afford all of her daily medication.

April needs an electric wheelchair so she can stay mobile without falls.

An adjustable bed (costs $1000 - $4000)

A service dog to help her with daily tasks.

These are just a few examples of things you can help with but there is so much more she needs to continue fighting this disease all throughout her entire life as this is expensive disease to live with.

This Go-Fund Me page is supported by us as a family to enable April have a chance to function in life with hopefully less chronic pain.

We are truly thankful and grateful for any donations.


April’s Family,

Maggie Mertz (Mother)

Dustin Roth (Brother)

Carolyn Roth (Sister In Law)

Kelly Ann Miller (Sister)

Kevin Miller (Brother In Law)